Canonical Allele Identifier: CA353090843

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021167A>G (hg19) ; chr3:g.51987151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987151A>G , CM000665.2:g.51987151A>G	GRCh38
NC_000003.11:g.52021167A>G , CM000665.1:g.52021167A>G	GRCh37
NC_000003.10:g.51996207A>G	NCBI36
NG_012036.1:g.8605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.662A>G (ACY1)	ENSP00000384296.2:p.Lys221Arg
ENST00000464587.2:n.348A>G (ACY1)
ENST00000486081.6:c.*508A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*508A>G
ENST00000635785.1:c.887+90A>G (ABHD14A-ACY1)
ENST00000635797.1:c.557A>G (ACY1)	ENSP00000490007.1:p.Lys186Arg
ENST00000635937.1:c.*919A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*919A>G
ENST00000635941.1:c.936A>G (ACY1)	ENSP00000490309.1:n.936A>G
ENST00000635946.1:c.*1019A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1019A>G
ENST00000635951.1:c.*934A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*934A>G
ENST00000635952.1:c.749A>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Lys250Arg
ENST00000636085.1:c.*593A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*593A>G
ENST00000636089.1:c.*999A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*999A>G
ENST00000636358.2:c.662A>G (ACY1) MANE Select	ENSP00000490149.1:p.Lys221Arg
ENST00000636490.1:c.*999A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*999A>G
ENST00000636556.1:c.*607A>G (ACY1)	ENSP00000490500.1:n.*607A>G
ENST00000636646.1:c.*899A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*899A>G
ENST00000636660.1:c.625A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1274A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1274A>G
ENST00000636826.1:c.*593A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*593A>G
ENST00000636880.1:c.*372A>G (ACY1)	ENSP00000489947.1:n.*372A>G
ENST00000636942.1:c.*543A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*543A>G
ENST00000637025.1:c.*783A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*783A>G
ENST00000637034.1:n.95A>G (ACY1)
ENST00000637130.1:c.*883A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*883A>G
ENST00000637199.1:n.135A>G (ACY1)
ENST00000637209.1:c.*372A>G (ACY1)	ENSP00000490708.1:n.*372A>G
ENST00000637222.1:c.662A>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Lys221Arg
ENST00000637349.1:c.*220+90A>G (ACY1)	ENSP00000489688.1:n.*220+90A>G
ENST00000637460.1:n.696A>G (ACY1)
ENST00000637512.1:c.912A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1410A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1410A>G
ENST00000637696.1:c.*1019A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1019A>G
ENST00000637730.1:c.1195A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1410A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1410A>G
ENST00000637978.1:c.1231A>G (ABHD14A-ACY1)
ENST00000638096.1:n.553A>G (ACY1)
ENST00000638136.1:n.1078A>G (ACY1)
ENST00000404366.6:c.662A>G (ACY1)	ENSP00000384296.2:p.Lys221Arg
ENST00000463721.5:c.*573A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*573A>G
ENST00000463937.1:c.965A>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Lys322Arg
ENST00000464587.1:n.348A>G (ACY1)
ENST00000465121.5:n.735A>G (ACY1)
ENST00000476351.5:c.557A>G (ACY1)	ENSP00000417056.1:p.Lys186Arg
ENST00000476854.5:c.657+90A>G (ACY1)	ENSP00000419262.1:n.657+90A>G
ENST00000491318.5:c.584-158A>G (ACY1)	ENSP00000418683.1:n.584-158A>G
ENST00000494103.5:c.446A>G (ACY1)	ENSP00000417618.1:p.Lys149Arg
NM_000666.2:c.662A>G (ACY1)	NP_000657.1:p.Lys221Arg
NM_001198895.1:c.662A>G (ACY1)	NP_001185824.1:p.Lys221Arg
NM_001198896.1:c.446A>G (ACY1)	NP_001185825.1:p.Lys149Arg
NM_001198897.1:c.657+90A>G (ACY1)	NP_001185826.1:n.657+90A>G
NM_001198898.1:c.557A>G (ACY1)	NP_001185827.1:p.Lys186Arg
NM_001316331.1:c.932A>G (ABHD14A-ACY1)	NP_001303260.1:p.Lys311Arg
NM_000666.3:c.662A>G (ACY1) MANE Select	NP_000657.1:p.Lys221Arg
NM_001198895.2:c.662A>G (ACY1)	NP_001185824.1:p.Lys221Arg
NM_001198896.2:c.446A>G (ACY1)	NP_001185825.1:p.Lys149Arg
NM_001198897.2:c.657+90A>G (ACY1)	NP_001185826.1:n.657+90A>G
NM_001198898.2:c.557A>G (ACY1)	NP_001185827.1:p.Lys186Arg
NM_001316331.2:c.932A>G (ABHD14A-ACY1)	NP_001303260.1:p.Lys311Arg